Publications
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328 (2018).
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49, 1529-1538 (2017).
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 127, 912-928 (2017).
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).